A deletion containing part of the SNTG2 gene was identified in a patient with autistic features that was inherited from a mother with a mild personality disorder and was absent in a normal brother (Rosenfeld et al., 2010). In a subsequent study, a translocation disrupting the SNTG2 gene was identified in a female proband diagnosed with autism (Talkowski et al., 2012).
Molecular Function
his gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
